Incidental Mutation 'R7823:Nt5c1a'
ID 601987
Institutional Source Beutler Lab
Gene Symbol Nt5c1a
Ensembl Gene ENSMUSG00000054958
Gene Name 5'-nucleotidase, cytosolic IA
Synonyms Cn1a, LOC230718
MMRRC Submission 045877-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R7823 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 123095297-123110068 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123102365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 97 (V97A)
Ref Sequence ENSEMBL: ENSMUSP00000069422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068262]
AlphaFold A3KFX0
Predicted Effect probably damaging
Transcript: ENSMUST00000068262
AA Change: V97A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069422
Gene: ENSMUSG00000054958
AA Change: V97A

DomainStartEndE-ValueType
low complexity region 35 45 N/A INTRINSIC
Pfam:5-nucleotidase 78 350 3.5e-109 PFAM
Meta Mutation Damage Score 0.7481 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,771,484 (GRCm39) V869A probably benign Het
Alox15 C A 11: 70,235,494 (GRCm39) V623L possibly damaging Het
Angpt4 T G 2: 151,753,286 (GRCm39) L12R unknown Het
Cdh24 C T 14: 54,874,875 (GRCm39) A42T probably damaging Het
Cep250 T A 2: 155,807,336 (GRCm39) S234T possibly damaging Het
Clnk T A 5: 38,907,694 (GRCm39) Y188F probably benign Het
Csmd2 A T 4: 128,103,698 (GRCm39) T306S Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Dgka T A 10: 128,572,135 (GRCm39) Y50F probably benign Het
Dgkh C T 14: 78,841,921 (GRCm39) V434I probably benign Het
Epb41 A G 4: 131,701,993 (GRCm39) probably null Het
Fam220a A G 5: 143,549,011 (GRCm39) D141G probably damaging Het
Fbxo11 A G 17: 88,300,610 (GRCm39) L807S probably damaging Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Ggt1 G A 10: 75,410,175 (GRCm39) V36M possibly damaging Het
Gjb2 T C 14: 57,337,963 (GRCm39) I82V probably benign Het
Gm7579 T A 7: 141,766,307 (GRCm39) C238S unknown Het
Hps1 G A 19: 42,744,146 (GRCm39) T681M possibly damaging Het
Iqck T C 7: 118,472,046 (GRCm39) Y64H probably damaging Het
Ldlr G A 9: 21,653,602 (GRCm39) probably null Het
Macc1 A C 12: 119,410,800 (GRCm39) K523Q probably damaging Het
Mon2 A T 10: 122,868,559 (GRCm39) I498N probably damaging Het
Mphosph9 T C 5: 124,442,319 (GRCm39) E373G probably damaging Het
Mthfr T C 4: 148,135,944 (GRCm39) I314T probably benign Het
Mtmr4 T G 11: 87,503,015 (GRCm39) I1023S probably damaging Het
Myo9a T A 9: 59,719,233 (GRCm39) F507I probably damaging Het
Nlrp10 T A 7: 108,523,468 (GRCm39) M671L probably benign Het
Nxpe5 A G 5: 138,237,844 (GRCm39) R123G possibly damaging Het
Obscn T C 11: 58,998,766 (GRCm39) S1369G probably damaging Het
Oga A G 19: 45,765,354 (GRCm39) V151A possibly damaging Het
Or4a75 A G 2: 89,447,613 (GRCm39) *308Q probably null Het
Or52m2 A G 7: 102,264,164 (GRCm39) S11P probably benign Het
Or5b99 A T 19: 12,976,781 (GRCm39) I144F probably damaging Het
Or6c33 T A 10: 129,854,136 (GRCm39) M302K probably benign Het
Or6k2 A G 1: 173,987,254 (GRCm39) K305R probably benign Het
Or8b57 A T 9: 40,003,644 (GRCm39) V202E probably damaging Het
Pak6 G A 2: 118,525,793 (GRCm39) A618T probably benign Het
Pax7 T A 4: 139,468,150 (GRCm39) E489V probably benign Het
Phactr4 G A 4: 132,088,930 (GRCm39) R651* probably null Het
Pik3c2b C T 1: 133,030,043 (GRCm39) R1435C probably damaging Het
Pla2g4c A T 7: 13,063,944 (GRCm39) I68F probably damaging Het
Plppr1 A G 4: 49,325,703 (GRCm39) M300V probably benign Het
Ptgfrn C T 3: 100,950,725 (GRCm39) V863I probably damaging Het
Rabep2 T C 7: 126,037,893 (GRCm39) S222P probably damaging Het
Ramacl A G 13: 67,055,351 (GRCm39) probably benign Het
Rbm20 A T 19: 53,831,785 (GRCm39) D673V probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Scn4a C A 11: 106,233,334 (GRCm39) A413S probably damaging Het
Scn9a A T 2: 66,314,135 (GRCm39) M1850K probably damaging Het
Sh3tc2 T A 18: 62,086,188 (GRCm39) M1K probably null Het
Slc22a28 G A 19: 8,041,890 (GRCm39) T439I probably benign Het
Slc25a36 A G 9: 96,966,444 (GRCm39) probably null Het
Smpd3 A C 8: 106,982,254 (GRCm39) C617G probably benign Het
Spata3 T C 1: 85,949,781 (GRCm39) probably benign Het
Srp68 C T 11: 116,156,265 (GRCm39) R159Q probably damaging Het
Ssbp2 C A 13: 91,790,448 (GRCm39) L104I possibly damaging Het
St8sia3 T A 18: 64,400,027 (GRCm39) F7L probably benign Het
Stard9 T C 2: 120,532,587 (GRCm39) V2948A probably damaging Het
Syne4 A G 7: 30,018,280 (GRCm39) T341A probably benign Het
Tcf7l2 T A 19: 55,731,521 (GRCm39) D91E possibly damaging Het
Tekt5 T A 16: 10,203,943 (GRCm39) I236F probably damaging Het
Tlk2 T C 11: 105,144,133 (GRCm39) Y316H probably damaging Het
Tmem184b C T 15: 79,249,491 (GRCm39) A326T probably benign Het
Tnks2 G A 19: 36,829,954 (GRCm39) probably null Het
Trpc4 C A 3: 54,209,640 (GRCm39) Y668* probably null Het
Ttc9c A T 19: 8,793,286 (GRCm39) F118Y probably benign Het
Ulk1 C T 5: 110,946,780 (GRCm39) C95Y probably damaging Het
Vars2 A C 17: 35,970,028 (GRCm39) L787R probably damaging Het
Vwa3a T C 7: 120,372,185 (GRCm39) S254P probably damaging Het
Wdr81 T C 11: 75,340,627 (GRCm39) Y1250C probably damaging Het
Xirp2 A T 2: 67,342,118 (GRCm39) D1453V probably damaging Het
Zbtb38 A T 9: 96,568,029 (GRCm39) C1018* probably null Het
Zfp622 C T 15: 25,984,709 (GRCm39) T25M probably damaging Het
Other mutations in Nt5c1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Nt5c1a APN 4 123,109,962 (GRCm39) missense probably damaging 1.00
IGL02035:Nt5c1a APN 4 123,107,895 (GRCm39) missense possibly damaging 0.93
IGL02437:Nt5c1a APN 4 123,108,034 (GRCm39) missense probably benign 0.25
IGL02877:Nt5c1a APN 4 123,109,867 (GRCm39) missense probably damaging 1.00
R1628:Nt5c1a UTSW 4 123,102,284 (GRCm39) missense possibly damaging 0.65
R2273:Nt5c1a UTSW 4 123,109,873 (GRCm39) missense probably damaging 1.00
R2275:Nt5c1a UTSW 4 123,109,873 (GRCm39) missense probably damaging 1.00
R4433:Nt5c1a UTSW 4 123,109,689 (GRCm39) missense probably benign 0.01
R4826:Nt5c1a UTSW 4 123,102,365 (GRCm39) missense probably damaging 1.00
R5328:Nt5c1a UTSW 4 123,102,786 (GRCm39) missense possibly damaging 0.90
R5690:Nt5c1a UTSW 4 123,109,732 (GRCm39) missense probably damaging 1.00
R5883:Nt5c1a UTSW 4 123,110,049 (GRCm39) splice site probably null
R7162:Nt5c1a UTSW 4 123,107,898 (GRCm39) missense probably benign
R7390:Nt5c1a UTSW 4 123,102,272 (GRCm39) missense probably benign 0.01
R7951:Nt5c1a UTSW 4 123,105,978 (GRCm39) missense probably benign 0.02
R8121:Nt5c1a UTSW 4 123,102,235 (GRCm39) missense probably damaging 1.00
R8265:Nt5c1a UTSW 4 123,107,953 (GRCm39) missense possibly damaging 0.90
R8927:Nt5c1a UTSW 4 123,102,281 (GRCm39) missense possibly damaging 0.51
R8928:Nt5c1a UTSW 4 123,102,281 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- TGGGATTGAGTGACAGCCTG -3'
(R):5'- TCGGTGGCACCTTGTTAAAG -3'

Sequencing Primer
(F):5'- GATTGAGTGACAGCCTGTTTTAC -3'
(R):5'- CCTTGTTAAAGGTGGATGGAGG -3'
Posted On 2019-12-03